Genetics and Young Onset Parkinson's Disease
GENETICS AND YOUNG ONSET PARKINSON'S DISEASE
One week before her 26th birthday, young and energetic Brandi Roman was told by her neurologist, "You have Parkinson's disease." More specifically, Brandi was diagnosed with young onset Parkinson's disease (YOPD) which is variably described as beginning between the ages of 21 and 50.
Recent research suggests that there may be a relatively greater contribution of genetics in this category of PD compared to those with an older age of onset. Still, the familial forms of PD (those related to genes or genetic mutations), apply to a relatively small percentage of YOPD patients. Brandi wondered if her PD was associated with her DNA or if it was idiopathic (PD with no known cause).
Two years after that initial diagnosis, Brandi was still struggling to accept it. When a doctor Brandi was consulting proposed the idea of genetic testing, she was ready. "I already knew there were genetic components associated with PD, especially young onset," Brandi explains. "You have to understand that when it comes to me and my disease, I am very proactive. I want to know all the options out there, and I research almost daily."
Currently, scientists have identified at least six gene mutations (SNCA, PRKN, PINK1, D J-l, LRRK2 and GBA) as more commonly contributing to the development of YOPD. Gene location, gene products and mode of inheritance (whether one or two copies of the gene are required for the disease to potentially develop) are also now known.
While "sporadic" forms (those with no clear pattern of inheritance) are much more common, these genetic discoveries are important as they may ultimately make the mutation a target for repair.
For Brandi, learning that she did in fact have the PRKN gene was both a relief and a harsh reality. "I was not prepared, even after all the research and knowledge, to hear the words 'I am completely confident in telling you that you have Parkinson's disease.'" Her advice for those considering genetic testing, "Get the offered counseling. If there is none, make an appointment with the nearest genetic counselor. These results can be life altering."
Brandi suggests that anyone considering genetic testing think through the decision thoroughly and carefully. "Consult those closest to you, but know that the ultimate decision is yours. Consider it from many different angles. If you don't get the answer you are looking for, are you going to be okay?
Brandi's testing has provided her with some insight into the cause of her PD, but, at this time, it doesn't change her treatment options. "These are life's tough decisions," says Brandi, "still, I believe the more we know, the better prepared we are for the future."
You can learn more about Brandi on the Faces of Experience page of our Web site www.youngparkinsons.org
Medical information contributed by Michael Rezak, MD,PhD, Medical Director of APDA's National Young Onset Center and Director of the Movement Disorders Center at Central DuPage Hospital in Winfield, Illinois. He is also on the Speaker's Bureau for Allergan, Novartis, Medtronic, Teva and GlaxoSmithKline.
Providing Answers or Generating More Questions?
If you are young and experiencing some of the symptoms of Parkinson's disease, genetic testing may help confirm the diagnosis of one of the familial forms of the disease. If you do not have symptoms but have a family member or members who do, genetic screening can be used to gather information about your increased risk or predisposition to inherit PD. In either situation, should particular genes or genetic mutations be identified, if or when the disease manifests, and to what degree of severity, remains unknown. In fact, individuals with the same genetic abnormalities can have quite different clinical presentations such as age of onset, presence/severity of tremor, cognitive involvement, etc.
If you are interested in learning more about genetic testing and movement disorders, visit http://tinyurl.com/ylhf83x or the national Society of Genetic Counselors at www.nsgc.org. Those who have a family history of early onset PD in first degree relatives or who have multiple family members with young onset PD may find that their concern for themselves and for future generations makes genetic screening worthwhile.